A 3-year-old girl is brought to the emergency department due to a first-time seizure. The patient was watching television 30 minutes ago when her left arm began to twitch, which progressed to twitching in all 4 extremities and loss of consciousness for 1 minute. Medical history is notable for receptive and expressive language delays. Vital signs are normal. Examination shows a sleepy but arousable toddler lying on the bed. An erythematous patch is present on the right forehead and upper eyelid, which her parents say has been present since birth. There is a light brown macule with an irregular border measuring 0.5 cm on the abdomen. Skin examination is otherwise normal. Visual field examination reveals a left homonymous hemianopia. Neurologic examination is otherwise unremarkable. Which of the following is the most likely diagnosis in this patient?

Question

A 3-year-old girl is brought to the emergency department due to a first-time seizure.  The patient was watching television 30 minutes ago when her left arm began to twitch, which progressed to twitching in all 4 extremities and loss of consciousness for 1 minute.  Medical history is notable for receptive and expressive language delays.  Vital signs are normal.  Examination shows a sleepy but arousable toddler lying on the bed.  An erythematous patch is present on the right forehead and upper eyelid, which her parents say has been present since birth.  There is a light brown macule with an irregular border measuring 0.5 cm on the abdomen.  Skin examination is otherwise normal.  Visual field examination reveals a left homonymous hemianopia.  Neurologic examination is otherwise unremarkable.  Which of the following is the most likely diagnosis in this patient?

Quizplus · Accepted Answer

11ec25c8_d5ce_80a6_bc81_c9ac3abeaafb_MD0003_00 This patient has a facial port-wine stain and new-onset seizure, findings concerning for Sturge-Weber syndrome (SWS). SWS is a neurocutaneous disorder characterized by a capillary malformation (nevus flammeus, also known as port-wine stain) in the distribution of the first or second branches of the trigeminal nerve with an associated leptomeningeal capillary-venous malformation affecting the brain and eye. nevus flammeus Patients with SWS have variable intellectual disability, which may present as developmental delays in infancy and early childhood. Seizures begin in early childhood and often originate focally with subsequent generalization, as seen in this patient. Hemiparesis contralateral to the intracranial malformation may present at the time of seizure onset. Glaucoma is the most common intraocular abnormality in SWS; however, a vascular malformation involving the occipital lobe or optic tract can also cause visual field defects. For example, this patient's left homonymous hemianopia, or vision loss in the left visual field of both eyes, results from a lesion involving the contralateral visual pathway. homonymous hemianopia MRI of the brain with contrast detects the intracranial vascular malformation and is diagnostic. Treatment is aimed at controlling seizures and reducing intraocular pressure. Laser therapy may also help reduce the appearance of the port-wine stain. MRI of the brain with contrast (Choice A) Infantile hemangioma is a raised, vascular lesion composed of small capillaries and presents at birth or shortly after with a bright red papule/nodule. Hemangiomas initially proliferate in infancy before spontaneous involution. Seizures and neurologic deficits are not associated with hemangiomas. Infantile hemangioma (Choice B) Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder that can cause intellectual disability and seizures. Patients typically have neurofibromas, axillary freckling, and café au lait macules but do not have capillary malformations. Neurofibromatosis type 1 (Choice C) Neurofibromatosis type 2 is an autosomal dominant neurocutaneous disorder associated with bilateral vestibular schwannomas. Cataract is the mostly commonly associated ophthalmic condition, and skin manifestations include cutaneous plaques and tumors (not port-wine stains). (Choice E) Tuberous sclerosis is a neurocutaneous disorder that often presents with seizures and intellectual disability. Typical skin findings are hypopigmented ash-leaf spots, angiofibromas (malar erythematous papules), and shagreen patches (flesh-colored plaque on the back). This patient does not have dermatologic manifestations of tuberous sclerosis. Educational objective: Sturge-Weber syndrome is a neurocutaneous disorder characterized by a capillary malformation (port-wine stain) along the trigeminal nerve distribution and leptomeningeal capillary-venous malformations affecting the brain and eye. Seizures, intellectual disability, and visual field defects can occur. References: Sturge-Weber syndrome: a review. (http://www.ncbi.nlm.nih.gov/pubmed/28126187) Sturge-Weber syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/26564078)

A 3-Year-Old Girl Is Brought to the Emergency Department Due